Canonical Allele Identifier: CA345439213

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508638G>T , CM000663.2:g.241508638G>T	GRCh38
NC_000001.10:g.241671938G>T , CM000663.1:g.241671938G>T	GRCh37
NC_000001.9:g.239738561G>T	NCBI36
NG_012338.1:g.16117C>A , LRG_504:g.16117C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000143.4:c.703C>A MANE Select	NP_000134.2:p.His235Asn
ENST00000366560.4:c.703C>A MANE Select	ENSP00000355518.4:p.His235Asn
NM_000143.3:c.703C>A , LRG_504t1:c.703C>A	NP_000134.2:p.His235Asn
ENST00000366560.3:c.703C>A	ENSP00000355518.3:p.His235Asn
ENST00000493477.2:n.1206C>A
ENST00000682162.1:c.732C>A	ENSP00000508203.1:n.732C>A
ENST00000682567.1:n.780C>A
ENST00000683521.1:c.703C>A	ENSP00000506864.1:p.His235Asn
ENST00000684161.1:n.1918C>A
ENST00000684483.1:c.*99C>A	ENSP00000507894.1:n.*99C>A
XM_011544132.1:c.475C>A	XP_011542434.1:p.His159Asn
XM_011544132.2:c.475C>A	XP_011542434.1:p.His159Asn